1. Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria
- Author
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Walid Al-Achkar, Abdulsamad Wafa, Ahmad Rami Rahmeh, Ziad Aljarad, Sara Aljarad, Abdelaziz Alibraheem, Ghasan Aziz, and Ahmad Alhamid
- Subjects
0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,medicine.medical_treatment ,Case Report ,Sister chromatid exchange ,030105 genetics & heredity ,Malignancy ,Microbiology ,Short stature ,03 medical and health sciences ,0302 clinical medicine ,hemic and lymphatic diseases ,medicine ,Bloom syndrome ,Immunodeficiency ,Chemotherapy ,business.industry ,nutritional and metabolic diseases ,medicine.disease ,Fungal pneumonia ,Dermatology ,Rash ,Infectious Diseases ,030221 ophthalmology & optometry ,Parasitology ,medicine.symptom ,business - Abstract
Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. This case has new ophthalmologic manifestations. We confirmed the diagnosis by detection of high rate of sister chromatid exchange. The patient received chemotherapy but did not tolerate it well and developed fungal pneumonia.
- Published
- 2018
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